Parents of special children......chosen ones

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Is the birth of our special need child an accident or are we chosen carefully?

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Features of Down syndrome

Down Syndrome babies often carry Mongolian features,flat face,slanting almond shape eyes,short neck.Small ears,which usually stick to their face and protruding tongue which usually remains out of their mouth for at least initial few months.As the oral cavity grows tongue gets space in the mouth itself but often seen protruding .White spots in the iris may or may not always be seen.Small limbs with inward rolling,small palms and feet,widely spaced toe finger,single palmar crease called as simian crease are some of the commonest features.With all these features most of the downs children seem to belong  the same family as they resemble so much to each other.                                             

  Intellectually these kids may have mild to moderate IQ than normal kids,but their ability to excel in certain fields is remarkable.Sports like swimming and recreational things like music and dance can really uplift them.They may cover their milestones at a little slow pace but if organised and trained properly they lead an episode free and productive life.Down syndrome is usually associated with several physical compromised conditions.These conditions may or may not be present all together. Esophageal reflux,Intestinal blockage, ASDs,Vision,Hearing,Thyroid,Dementia,speech,Joint Luxation,Gait are some of the most commonly seen medical threats.Regular medical intervention can bring smooth and healthy life.

Genetics Down Syndrome

 Down Syndrome or trisomy 21,is a genetic variation where chromosome 21 usually has three copies in all cells of body.It can be also seen as trans location of chromosome 21.At the time of fertilization usually the process takes place.In some cases an extra copy of chromosome 21 in some cells and not all comes to the category of Mosaic Down syndrome.

                    This extra copy of genes is not only believed to break the genetic cycle of family but also in some cases,  my experience has seen rarest cases where i have found due to gene mutation family genetic line is not only affected but the blood group disparity of Down s Child diversified causing disparity in familial line.Researchers have never found a reason for same as blood group is connected to Gene 19 where there may be some other genetic condition that is linked between the two.But like many unexplained things this is a point of research till date.

                           Usually neither down syndrome is inherited nor it frequently repeats in further pregnancies.The chances of both the conditions are very low.Down syndrome baby may happen to anybody who is unaffected by himself and so are his generations.

It can be well detected by diagnostic tools in early pregnancy and can be prevented.

What Is Down Syndrome?

Down syndrome, also known as trisomy 21, is usually caused by the presence of all or part of a third copy of chromosome 21 and is thus called as trisomy. Down syndrome is the most commonly occurring chromosomal disorder . In United States one of 691 babies born per year one  is down syndrome.           It delays physical growth by affecting milestones and intellectual disability as well.They have average half the IQ of normal human beings.We can improve the quality of life by monitoring their health and mentoring their lifestyle.The disease was named after John Langdon Down in 1866,health care practitioner who clinically described the condition and researched over the disease.He found it was not merely a disease but found it is a clinical condition which affects many organs and thus decribed it as syndrome.It can be well seen in prenatal screenings and usually terminated as low socially acceptable condition.DespiteDown syndrome kids being chirpy and lovable.Those born unidentified face severe rejections by society.